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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2002715050
Gene:
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.116733028_116733030delinsCCT , CM000673.2:g.116733028_116733030delinsCCT
GRCh38
NC_000011.9:g.116603744_116603746delinsCCT , CM000673.1:g.116603744_116603746delinsCCT
GRCh37
NC_000011.8:g.116108954_116108956delinsCCT
NCBI36
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